UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725913A= | CA1969071982 | F2 | c.614A= (p.Asn205=) c.584A= (p.Asn195=) n.394A= c.566A= (p.Asn189=) n.658A= n.649A= | |
| 11 | g.46725913A>C | CA380264782 | F2 | c.614A>C (p.Asn205Thr) c.584A>C (p.Asn195Thr) n.394A>C c.566A>C (p.Asn189Thr) n.658A>C n.649A>C | dbSNP |
| 11 | g.46725913A>G | CA380264784 | F2 | c.614A>G (p.Asn205Ser) c.584A>G (p.Asn195Ser) n.394A>G c.566A>G (p.Asn189Ser) n.658A>G n.649A>G | |
| 11 | g.46725913A>T | CA380264785 | F2 | c.614A>T (p.Asn205Ile) c.584A>T (p.Asn195Ile) n.394A>T c.566A>T (p.Asn189Ile) n.658A>T n.649A>T | |
| 11 | g.46725914T>A | CA380264787 | F2 | c.615T>A (p.Asn205Lys) c.585T>A (p.Asn195Lys) n.395T>A c.567T>A (p.Asn189Lys) n.659T>A n.650T>A | |
| 11 | g.46725914T>C | CA474043505 | F2 | c.615T>C (p.Asn205=) c.585T>C (p.Asn195=) n.395T>C c.567T>C (p.Asn189=) n.659T>C n.650T>C | COSMIC |
| 11 | g.46725914T>G | CA380264788 | F2 | c.615T>G (p.Asn205Lys) c.585T>G (p.Asn195Lys) n.395T>G c.567T>G (p.Asn189Lys) n.659T>G n.650T>G | |
| 11 | g.46725915C>A | CA380264790 | F2 | c.616C>A (p.Leu206Met) c.586C>A (p.Leu196Met) n.396C>A c.568C>A (p.Leu190Met) n.660C>A n.651C>A | gnomAD v4 |
| 11 | g.46725915C>G | CA380264791 | F2 | c.616C>G (p.Leu206Val) c.586C>G (p.Leu196Val) n.396C>G c.568C>G (p.Leu190Val) n.660C>G n.651C>G | |
| 11 | g.46725915C>T | CA474043510 | F2 | c.616C>T (p.Leu206=) c.586C>T (p.Leu196=) n.396C>T c.568C>T (p.Leu190=) n.660C>T n.651C>T | |
| 11 | g.46725916T>A | CA380264793 | F2 | c.617T>A (p.Leu206Gln) c.587T>A (p.Leu196Gln) n.397T>A c.569T>A (p.Leu190Gln) n.661T>A n.652T>A | gnomAD v4 |
| 11 | g.46725916T>C | CA380264795 | F2 | c.617T>C (p.Leu206Pro) c.587T>C (p.Leu196Pro) n.397T>C c.569T>C (p.Leu190Pro) n.661T>C n.652T>C | |
| 11 | g.46725916T>G | CA380264797 | F2 | c.617T>G (p.Leu206Arg) c.587T>G (p.Leu196Arg) n.397T>G c.569T>G (p.Leu190Arg) n.661T>G n.652T>G | |
| 11 | g.46725917_46725918del | CA645571955 | F2 | c.618_619del (p.Ser207ThrfsTer9) c.588_589del (p.Ser197ThrfsTer9) n.398_399del c.570_571del (p.Ser191ThrfsTer9) n.662_663del n.653_654del | COSMIC |
| 11 | g.46725917G>A | CA474043514 | F2 | c.618G>A (p.Leu206=) c.588G>A (p.Leu196=) n.398G>A c.570G>A (p.Leu190=) n.662G>A n.653G>A | |
| 11 | g.46725917G>C | CA474043516 | F2 | c.618G>C (p.Leu206=) c.588G>C (p.Leu196=) n.398G>C c.570G>C (p.Leu190=) n.662G>C n.653G>C | |
| 11 | g.46725917G>T | CA474043517 | F2 | c.618G>T (p.Leu206=) c.588G>T (p.Leu196=) n.398G>T c.570G>T (p.Leu190=) n.662G>T n.653G>T | |
| 11 | g.46725918T>A | CA380264802 | F2 | c.619T>A (p.Ser207Thr) c.589T>A (p.Ser197Thr) n.399T>A c.571T>A (p.Ser191Thr) n.663T>A n.654T>A | |
| 11 | g.46725918T>C | CA380264798 | F2 | c.619T>C (p.Ser207Pro) c.589T>C (p.Ser197Pro) n.399T>C c.571T>C (p.Ser191Pro) n.663T>C n.654T>C | gnomAD v4 |
| 11 | g.46725918T>G | CA380264800 | F2 | c.619T>G (p.Ser207Ala) c.589T>G (p.Ser197Ala) n.399T>G c.571T>G (p.Ser191Ala) n.663T>G n.654T>G | |
| 11 | g.46725919C>A | CA380264803 | F2 | c.620C>A (p.Ser207Ter) c.590C>A (p.Ser197Ter) n.400C>A c.572C>A (p.Ser191Ter) n.664C>A n.655C>A | |
| 11 | g.46725919C>G | CA380264805 | F2 | c.620C>G (p.Ser207Ter) c.590C>G (p.Ser197Ter) n.400C>G c.572C>G (p.Ser191Ter) n.664C>G n.655C>G | |
| 11 | g.46725919C>T | CA380264806 | F2 | c.620C>T (p.Ser207Leu) c.590C>T (p.Ser197Leu) n.400C>T c.572C>T (p.Ser191Leu) n.664C>T n.655C>T | |
| 11 | g.46725920A= | CA1969071985 | F2 | c.621A= (p.Ser207=) c.591A= (p.Ser197=) n.401A= c.573A= (p.Ser191=) n.665A= n.656A= | |
| 11 | g.46725920A>C | CA474043520 | F2 | c.621A>C (p.Ser207=) c.591A>C (p.Ser197=) n.401A>C c.573A>C (p.Ser191=) n.665A>C n.656A>C | dbSNP |
| 11 | g.46725920A>G | CA474043521 | F2 | c.621A>G (p.Ser207=) c.591A>G (p.Ser197=) n.401A>G c.573A>G (p.Ser191=) n.665A>G n.656A>G | |
| 11 | g.46725920A>T | CA474043523 | F2 | c.621A>T (p.Ser207=) c.591A>T (p.Ser197=) n.401A>T c.573A>T (p.Ser191=) n.665A>T n.656A>T | |
| 11 | g.46725921C>A | CA380264808 | F2 | c.622C>A (p.Pro208Thr) c.592C>A (p.Pro198Thr) n.402C>A c.574C>A (p.Pro192Thr) n.666C>A n.657C>A | |
| 11 | g.46725921C>G | CA380264810 | F2 | c.622C>G (p.Pro208Ala) c.592C>G (p.Pro198Ala) n.402C>G c.574C>G (p.Pro192Ala) n.666C>G n.657C>G | gnomAD v4 |
| 11 | g.46725921C>T | CA380264812 | F2 | c.622C>T (p.Pro208Ser) c.592C>T (p.Pro198Ser) n.402C>T c.574C>T (p.Pro192Ser) n.666C>T n.657C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46725922C>A | CA380264814 | F2 | c.623C>A (p.Pro208His) c.593C>A (p.Pro198His) n.403C>A c.575C>A (p.Pro192His) n.667C>A n.658C>A | |
| 11 | g.46725922C>G | CA380264815 | F2 | c.623C>G (p.Pro208Arg) c.593C>G (p.Pro198Arg) n.403C>G c.575C>G (p.Pro192Arg) n.667C>G n.658C>G | |
| 11 | g.46725922C>T | CA380264817 | F2 | c.623C>T (p.Pro208Leu) c.593C>T (p.Pro198Leu) n.403C>T c.575C>T (p.Pro192Leu) n.667C>T n.658C>T | |
| 11 | g.46725923T>A | CA474043533 | F2 | c.624T>A (p.Pro208=) c.594T>A (p.Pro198=) n.404T>A c.576T>A (p.Pro192=) n.668T>A n.659T>A | |
| 11 | g.46725923T>C | CA474043528 | F2 | c.624T>C (p.Pro208=) c.594T>C (p.Pro198=) n.404T>C c.576T>C (p.Pro192=) n.668T>C n.659T>C | |
| 11 | g.46725923T>G | CA474043525 | F2 | c.624T>G (p.Pro208=) c.594T>G (p.Pro198=) n.404T>G c.576T>G (p.Pro192=) n.668T>G n.659T>G | |
| 11 | g.46725924C>A | CA380264818 | F2 | c.625C>A (p.Pro209Thr) c.595C>A (p.Pro199Thr) n.405C>A c.577C>A (p.Pro193Thr) n.669C>A n.660C>A | |
| 11 | g.46725924C= | CA1969071987 | F2 | c.625C= (p.Pro209=) c.595C= (p.Pro199=) n.405C= c.577C= (p.Pro193=) n.669C= n.660C= | |
| 11 | g.46725924C>G | CA380264819 | F2 | c.625C>G (p.Pro209Ala) c.595C>G (p.Pro199Ala) n.405C>G c.577C>G (p.Pro193Ala) n.669C>G n.660C>G | |
| 11 | g.46725924C>T | CA380264822 | F2 | c.625C>T (p.Pro209Ser) c.595C>T (p.Pro199Ser) n.405C>T c.577C>T (p.Pro193Ser) n.669C>T n.660C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.46725925C>A | CA380264824 | F2 | c.626C>A (p.Pro209Gln) c.596C>A (p.Pro199Gln) n.406C>A c.578C>A (p.Pro193Gln) n.670C>A n.661C>A | |
| 11 | g.46725925C>G | CA380264826 | F2 | c.626C>G (p.Pro209Arg) c.596C>G (p.Pro199Arg) n.406C>G c.578C>G (p.Pro193Arg) n.670C>G n.661C>G | |
| 11 | g.46725925C>T | CA380264825 | F2 | c.626C>T (p.Pro209Leu) c.596C>T (p.Pro199Leu) n.406C>T c.578C>T (p.Pro193Leu) n.670C>T n.661C>T | COSMIC |
| 11 | g.46725926A= | CA1969071994 | F2 | c.627A= (p.Pro209=) c.597A= (p.Pro199=) n.407A= c.579A= (p.Pro193=) n.671A= n.662A= | |
| 11 | g.46725926A>C | CA474043540 | F2 | c.627A>C (p.Pro209=) c.597A>C (p.Pro199=) n.407A>C c.579A>C (p.Pro193=) n.671A>C n.662A>C | |
| 11 | g.46725926A>G | CA5967023 | F2 | c.627A>G (p.Pro209=) c.597A>G (p.Pro199=) n.407A>G c.579A>G (p.Pro193=) n.671A>G n.662A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46725926A>T | CA474043543 | F2 | c.627A>T (p.Pro209=) c.597A>T (p.Pro199=) n.407A>T c.579A>T (p.Pro193=) n.671A>T n.662A>T | |
| 11 | g.46725927T>A | CA380264830 | F2 | c.628T>A (p.Leu210Met) c.598T>A (p.Leu200Met) n.408T>A c.580T>A (p.Leu194Met) n.672T>A n.663T>A | |
| 11 | g.46725927T>C | CA5967024 | F2 | c.628T>C (p.Leu210=) c.598T>C (p.Leu200=) n.408T>C c.580T>C (p.Leu194=) n.672T>C n.663T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725927T>G | CA380264831 | F2 | c.628T>G (p.Leu210Val) c.598T>G (p.Leu200Val) n.408T>G c.580T>G (p.Leu194Val) n.672T>G n.663T>G |